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rs398122518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs398122518(-;-)
Make rs398122518(-;GT)
ReferenceGRCh38 38.1/141
Chromosome17
Position1769885
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs398122518
ebirs398122518
HLIrs398122518
Exacrs398122518
Varsomers398122518
Maprs398122518
PheGenIrs398122518
hapmaprs398122518
1000 genomesrs398122518
hgdprs398122518
ensemblrs398122518
gopubmedrs398122518
geneviewrs398122518
scholarrs398122518
googlers398122518
pharmgkbrs398122518
gwascentralrs398122518
openSNPrs398122518
23andMers398122518
23andMe allrs398122518
SNP Nexus

SNPshotrs398122518
SNPdbers398122518
MSV3drs398122518
GWAS Ctlgrs398122518
Max Magnitude0
ClinVar
Risk rs398122518(;)
Alt rs398122518(;)
Reference rs398122518(GT;GT)
Significance Pathogenic
Disease Osteogenesis imperfecta type 12
Variation info
Gene SERPINF1
CLNDBN Osteogenesis imperfecta type 12
Reversed 0
HGVS NC_000017.10:g.1673179_1673180delGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034818.26,